Canonical Allele Identifier: CA7297462

Gene: GALC

Linked Data

• ClinVar Variation Id: 975392
• ClinVar RCV Id: RCV001251990
• dbSNP Id: rs561184126
• ExAC: 14:88454869 T / TA
• gnomAD v2: 14-88454869-T-TA
• gnomAD v3: 14-87988525-T-TA
• gnomAD v4: 14-87988525-T-TA
• MyVariant Identifiers: chr14:g.88454871_88454872insA (hg19) ; chr14:g.88454870_88454871insA (hg19) ; chr14:g.88454869_88454870insA (hg19) ; chr14:g.87988527_87988528insA (hg38) ; chr14:g.87988525_87988526insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988535dup , CM000676.2:g.87988535dup	GRCh38
NC_000014.8:g.88454879dup , CM000676.1:g.88454879dup	GRCh37
NC_000014.7:g.87524632dup	NCBI36
NG_011853.2:g.10038dup
NG_011853.3:g.10038dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.196-3dup MANE Select	ENSP00000261304.2:n.196-3dup
ENST00000261304.6:c.196-3dup	ENSP00000261304.2:n.196-3dup
ENST00000393568.8:c.196-319dup	ENSP00000377198.4:n.196-319dup
ENST00000393569.6:c.118-3dup	ENSP00000377199.2:n.118-3dup
ENST00000474294.6:n.186-3dup
ENST00000544807.6:c.28-3dup	ENSP00000437513.2:n.28-3dup
ENST00000554372.5:c.196-3dup	ENSP00000451884.1:n.196-3dup
ENST00000554916.5:n.75-3dup
ENST00000556879.5:c.256-3dup	ENSP00000452208.1:n.256-3dup
ENST00000557316.5:c.196-3dup	ENSP00000452314.1:n.196-3dup
ENST00000622264.4:c.186-3dup
NM_000153.3:c.196-3dup	NP_000144.2:n.196-3dup
NM_001201401.1:c.196-319dup	NP_001188330.1:n.196-319dup
NM_001201402.1:c.118-3dup	NP_001188331.1:n.118-3dup
XM_011536618.1:c.28-3dup	XP_011534920.1:n.28-3dup
XM_011536618.2:c.28-3dup	XP_011534920.1:n.28-3dup
NM_000153.4:c.196-3dup MANE Select	NP_000144.2:n.196-3dup
NM_001201401.2:c.196-319dup	NP_001188330.1:n.196-319dup
NM_001201402.2:c.118-3dup	NP_001188331.1:n.118-3dup